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Page 1
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C, Lezana Rosales JM, López Montiel J, Andrés Garrido LD, Sánchez Linares C, Carmona Tamajón S, Torres Fernández C, Sánchez González P, Franco Freire S, Benito López C, López Siles J. Palma Milla C, et al. Among authors: lezana rosales jm. Ann Hum Genet. 2018 Nov;82(6):425-436. doi: 10.1111/ahg.12272. Epub 2018 Jul 16. Ann Hum Genet. 2018. PMID: 30014477
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
Carrasco Salas P, Palma Milla C, Lezana Rosales JM, Benito C, Franco Freire S, López Siles J. Carrasco Salas P, et al. Among authors: lezana rosales jm. Am J Med Genet A. 2016 Feb;170A(2):544-546. doi: 10.1002/ajmg.a.37440. Epub 2015 Oct 21. Am J Med Genet A. 2016. PMID: 26487424 No abstract available.
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
Moreno-García M, Arteche-López AR, Álvarez-Mora MI, Palma Milla C, Quesada Espinosa JF, Lezana Rosales JM, Sánchez Calvín MT, Gómez Manjón I, Gómez Rodríguez MJ, Mendez-Guerrero A, Villarejo-Galende A. Moreno-García M, et al. Among authors: lezana rosales jm. Am J Med Genet A. 2021 Feb;185(2):591-595. doi: 10.1002/ajmg.a.61999. Epub 2020 Dec 11. Am J Med Genet A. 2021. PMID: 33305890
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A, Gómez Rodríguez MJ, Sánchez Calvin MT, Quesada-Espinosa JF, Lezana Rosales JM, Palma Milla C, Gómez-Manjón I, Hidalgo Mayoral I, Pérez de la Fuente R, Díaz de Bustamante A, Darnaude MT, Gil-Fournier B, Ramiro León S, Ramos Gómez P, Sierra Tomillo O, Juárez Rufián A, Arranz Cano MI, Villares Alonso R, Morales-Pérez P, Segura-Tudela A, Camacho A, Nuñez N, Simón R, Moreno-García M, Alvarez-Mora MI. Arteche-López A, et al. Among authors: lezana rosales jm. Genes (Basel). 2021 Apr 12;12(4):560. doi: 10.3390/genes12040560. Genes (Basel). 2021. PMID: 33921431 Free PMC article.
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Llamas-Velasco S, Arteche-López A, Méndez-Guerrero A, Puertas Martín V, Quesada Espinosa JF, Lezana Rosales JM, González-Sánchez M, Blanco-Palmero VA, Palma Milla C, Herrero-San Martín A, Borrego-Hernández D, García-Redondo A, Pérez-Martínez DA, Villarejo-Galende A. Llamas-Velasco S, et al. Among authors: lezana rosales jm. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):552-560. doi: 10.1080/21678421.2021.1927101. Epub 2021 May 19. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 34009082 Review.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Alvarez-Mora MI, Blanco-Palmero VA, Quesada-Espinosa JF, Arteche-Lopez AR, Llamas-Velasco S, Palma Milla C, Lezana Rosales JM, Gomez-Manjon I, Hernandez-Lain A, Jimenez Almonacid J, Gil-Fournier B, Ramiro-León S, González-Sánchez M, Herrero-San Martín AO, Pérez-Martínez DA, Gómez-Tortosa E, Carro E, Bartolomé F, Gomez-Rodriguez MJ, Sanchez-Calvin MT, Villarejo-Galende A, Moreno-Garcia M. Alvarez-Mora MI, et al. Among authors: lezana rosales jm. Int J Mol Sci. 2022 Apr 11;23(8):4230. doi: 10.3390/ijms23084230. Int J Mol Sci. 2022. PMID: 35457051 Free PMC article.
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Hidalgo Mayoral I, Martínez-Salio A, Llamas-Velasco S, Gómez-Majón I, Arteche-López A, Quesada-Espinosa JF, Palma Milla C, Lezana Rosales JM, Pérez de la Fuente R, Juárez Rufián A, Sierra Tomillo O, Sánchez Calvín MT, Gómez Rodríguez MJ, Ramos Gómez P, Villarejo-Galende A, Díaz-Guzmán J, Ortega-Casarrubios MÁ, Calleja-Castaño P, Moreno-García M. Hidalgo Mayoral I, et al. Among authors: lezana rosales jm. Eur J Med Genet. 2022 Aug;65(8):104539. doi: 10.1016/j.ejmg.2022.104539. Epub 2022 Jun 12. Eur J Med Genet. 2022. PMID: 35705147
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E, Pérez de la Fuente R, Arteche-López A, Gómez-Cano MLÁ, Quesada-Espinosa JF, Palma Milla C, Lezana Rosales JM, Mayo de Andrés S, Sánchez-Calvín MT, Gómez-Rodríguez MJ, Sierra Tomillo O, Juarez Rufian A, Ramos Gomez P, Herrero-Forte C, Fenollar-Cortés M, Cotarelo-Pérez C, García Ron A, Pérez Rodríguez O, Oancea-Ionescu R, Moreno-García M. Soengas-Gonda E, et al. Among authors: lezana rosales jm. Neuropediatrics. 2023 Feb;54(1):31-36. doi: 10.1055/a-1947-8411. Epub 2022 Sep 20. Neuropediatrics. 2023. PMID: 36126956
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos ML, Fernández-Guijarro M, Moreno-García M, Alvarez-Mora MI. Gómez-Rodríguez MJ, et al. Among authors: lezana rosales jm. Genes (Basel). 2022 Sep 8;13(9):1609. doi: 10.3390/genes13091609. Genes (Basel). 2022. PMID: 36140775 Free PMC article. Review.
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez IJ, González Granado LI, Martin MA, Quesada-Espinosa JF, Moreno-García M. Arteche-López A, et al. Among authors: lezana rosales jm. Eur J Hum Genet. 2021 Oct;29(10):1520-1526. doi: 10.1038/s41431-021-00919-5. Epub 2021 Jul 15. Eur J Hum Genet. 2021. PMID: 34267336 Free PMC article.
17 results